Canonical Allele Identifier: CA5152970
Gene: GABBR2 HGNC NCBI
COSMIC:
COSN26731329 (not active)
MyVariant.info:
GRCh38 chr9:g.98542066C>T
GRCh37 chr9:g.101304348C>T
gnomAD v2:
9:101304348 C / T
gnomAD v3:
9:98542066 C / T
gnomAD v4:
chr9-98542066-C-T
Joint Max Group AF 0.53498794 (EAS)
Genomes Max Group AF 0.48050443 (EAS)
Exomes Max Group AF 0.54037434 (EAS)
ClinVar RCV:
RCV001690590
ClinVar Variation:
1277285
dbSNP:
2184026
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98542066C>T , CM000671.2:g.98542066C>T GRCh38
NC_000009.11:g.101304348C>T , CM000671.1:g.101304348C>T GRCh37
NC_000009.10:g.100344169C>T NCBI36
NG_016426.1:g.172132G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.460-23G>A MANE Select ENSP00000259455.2:n.460-23G>A
ENST00000637410.1:n.238-23G>A
ENST00000637717.1:c.76-23G>A ENSP00000490789.1:n.76-23G>A
ENST00000638001.1:n.70-23G>A
ENST00000259455.3:c.460-23G>A ENSP00000259455.2:n.460-23G>A
ENST00000477471.1:n.247-23G>A
ENST00000634227.1:n.234-23G>A
NM_005458.7:c.460-23G>A NP_005449.5:n.460-23G>A
XM_017015331.2:c.166-23G>A XP_016870820.1:n.166-23G>A
NM_005458.8:c.460-23G>A MANE Select NP_005449.5:n.460-23G>A
Search 100 bp 5'
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